Canonical Allele Identifier: CA388786271

Gene: F7

Linked Data

• gnomAD v4: 13-113118673-G-A
• COSMIC: COSM4520594
• MyVariant Identifiers: chr13:g.113772987G>A (hg19) ; chr13:g.113118673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118673G>A , CM000675.2:g.113118673G>A	GRCh38
NC_000013.10:g.113772987G>A , CM000675.1:g.113772987G>A	GRCh37
NC_000013.9:g.112820988G>A	NCBI36
NG_009258.1:g.875G>A , LRG_548:g.875G>A
NG_009262.1:g.17883G>A , LRG_554:g.17883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1000G>A MANE Select	ENSP00000329546.4:p.Glu334Lys
ENST00000346342.7:c.1000G>A	ENSP00000329546.3:p.Glu334Lys
ENST00000375581.3:c.1066G>A	ENSP00000364731.3:p.Glu356Lys
ENST00000541084.5:c.814G>A	ENSP00000442051.2:p.Glu272Lys
NM_000131.4:c.1066G>A , LRG_554t1:c.1066G>A	NP_000122.1:p.Glu356Lys
NM_001267554.1:c.814G>A	NP_001254483.1:p.Glu272Lys
NM_019616.3:c.1000G>A , LRG_554t2:c.1000G>A	NP_062562.1:p.Glu334Lys
NR_051961.1:n.1087G>A
XM_006719963.2:c.859G>A	XP_006720026.1:p.Glu287Lys
XM_011537474.1:c.1108G>A	XP_011535776.1:p.Glu370Lys
XM_011537475.1:c.922G>A	XP_011535777.1:p.Glu308Lys
XM_011537476.1:c.760G>A	XP_011535778.1:p.Glu254Lys
XM_011537477.1:c.1069G>A	XP_011535779.1:p.Glu357Lys
XM_006719963.3:c.904G>A	XP_006720026.2:p.Glu302Lys
XM_011537474.2:c.1153G>A	XP_011535776.2:p.Glu385Lys
XM_011537475.2:c.967G>A	XP_011535777.2:p.Glu323Lys
XM_011537476.2:c.760G>A	XP_011535778.1:p.Glu254Lys
NM_019616.4:c.1000G>A MANE Select	NP_062562.1:p.Glu334Lys
NR_051961.2:n.1084G>A
NM_001267554.2:c.814G>A	NP_001254483.1:p.Glu272Lys